Canonical Allele Identifier: CA863601210

Gene: GNE CLTA

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.36216078T>C , CM000671.2:g.36216078T>C	GRCh38
NC_000009.11:g.36216075T>C , CM000671.1:g.36216075T>C	GRCh37
NC_000009.10:g.36206075T>C	NCBI36
NG_008246.1:g.65967A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396594.8:c.*1287A>G (GNE) MANE Plus Clinical	ENSP00000379839.3:n.*1287A>G
ENST00000642385.2:c.*1287A>G (GNE) MANE Select	ENSP00000494141.2:n.*1287A>G
ENST00000396594.7:c.*1287A>G (GNE)	ENSP00000379839.3:n.*1287A>G
ENST00000464497.5:c.485+11899T>C (CLTA)	ENSP00000419158.1:n.485+11899T>C
ENST00000539815.5:c.*599+688A>G (GNE)	ENSP00000439155.1:n.*599+688A>G
NM_001128227.2:c.*1287A>G (GNE)	NP_001121699.1:n.*1287A>G
NM_001190383.1:c.*1287A>G (GNE)	NP_001177312.1:n.*1287A>G
NM_001190384.1:c.*1287A>G (GNE)	NP_001177313.1:n.*1287A>G
NM_001190388.1:c.*1287A>G (GNE)	NP_001177317.1:n.*1287A>G
NM_005476.5:c.*1287A>G (GNE)	NP_005467.1:n.*1287A>G
XM_005251334.3:c.*1287A>G (GNE)	XP_005251391.1:n.*1287A>G
NM_001190383.2:c.*1287A>G (GNE)	NP_001177312.1:n.*1287A>G
NM_001190384.2:c.*1287A>G (GNE)	NP_001177313.1:n.*1287A>G
NM_005476.6:c.*1287A>G (GNE)	NP_005467.1:n.*1287A>G
XM_017014167.1:c.*1287A>G (GNE)	XP_016869656.1:n.*1287A>G
XM_017014168.1:c.*1287A>G (GNE)	XP_016869657.1:n.*1287A>G
NM_001128227.3:c.*1287A>G (GNE) MANE Plus Clinical	NP_001121699.1:n.*1287A>G
NM_001190383.3:c.*1287A>G (GNE)	NP_001177312.1:n.*1287A>G
NM_001190384.3:c.*1287A>G (GNE)	NP_001177313.1:n.*1287A>G
NM_001190388.2:c.*1287A>G (GNE)	NP_001177317.2:n.*1287A>G
NM_001374797.1:c.*1287A>G (GNE)	NP_001361726.1:n.*1287A>G
NM_001374798.1:c.*1287A>G (GNE)	NP_001361727.1:n.*1287A>G
NM_005476.7:c.*1287A>G (GNE) MANE Select	NP_005467.1:n.*1287A>G